Allele Registry

Canonical Allele Identifier: PA2826738723

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000115312

RCV000699350

RCV001021051

ClinVar Variation:

127504

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274175.1:p.Glu1251Gln	CA287115 NM_001287246.2:c.3751G>C